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Achondroplasia occurs when cartilage tissue doesn't develop in the bones of your arms and legs They are shorter than most other people because of their bone abnormalities. Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (fgfr3) gene (located in chromosome 4) that results in its protein being overactive
Achondroplasia is a genetic condition affecting a protein in the body called the fibroblast growth factor receptor Achondroplasia is a bone disorder that results in dwarfism In achondroplasia, this protein begins to function abnormally, slowing down the growth of bone in the cartilage of the growth plate.
Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone
It is characterized by dwarfism, limited range of motion at the elbows, large head size (macrocephaly), small fingers, and normal intelligence. Learn more about the causes, physical characteristics and other detailed information about achondroplasia, the most common form of skeletal dysplasia. Achondroplasia is a disorder of bone growth It is the most common form of disproportionate short stature
It occurs in one in every 15,000 to one in 40,000 live births Achondroplasia is caused by a gene alteration (mutation) in the fgfr3 gene. Achondroplasia is a genetic disorder that affects bone growth, causing dwarfism, limited range of motion, and a large head The condition is the most common form of skeletal dysplasia.
Learn about achondroplasia, a genetic disorder that causes birth defects and results in abnormally short stature
Discover facts about testing, symptoms, diagnosis, and treatment for achondroplasia. Learn about its causes, symptoms, treatment, and how to care for your child.
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